Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, +47

Nature Genetics

Oculopharyngodistal MyopathyAutoimmune DiseaseNeurological DisorderMedicineOverlapping Disease +8

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population

Genta Sawada, Atsushi Niida, Ryutaro Uchi, +41

Gastroenterology

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, +64

Nature Genetics

MedicineNeuroscienceNeuropathologyIntronic TttcaTttta Repeats +1

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi, Y. Fukuda, Jun Yoshimura, +35

The American Journal of Human Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisErbb4 MutationsGeneticsNeurology +4

Variants associated with Gaucher disease in multiple system atrophy

Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki, +68

Annals of Clinical and Translational Neurology

Tissue Heat Content and Distribution during and after Cardiopulmonary Bypass at 31 [degree sign]C and 27 [degree sign]C 

Angela Rajek, Rainer Lenhardt, Daniel I. Sessler, +5

Anesthesiology

The accuracy and precision of four infrared aural canal thermometers during cardiac surgery

M. Imamura, Takashi Matsukawa, Makoto Ozaki, +3

Acta Anaesthesiologica Scandinavica

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, +15

Neurobiology of Aging

Amyotrophic Lateral SclerosisGenetic DisorderWhole-exome SequencingGeneticsMedicine +6

Development of a High-Throughput Microarray-Based Resequencing System for Neurological Disorders and Its Application to Molecular Genetics of Amyotrophic Lateral Sclerosis

Yuji Takahashi, Naomi Seki, Hiroyuki Ishiura, +13

Archives of Neurology

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy

Jun Mitsui, Takashi Matsukawa, Tsutomu Yasuda, +2

JAMA Neurology